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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia 4
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Accession:DOID:0070300 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: Autosomal recessive multiple epiphyseal dysplasia;   EDM4;   MED4;   Multiple epiphyseal dysplasia with bilayered patellae;   Multiple epiphyseal dysplasia with clubfoot;   Multiple epiphyseal dysplasia with double-layered patella;   Polyepiphyseal dysplasia type 4;   multiple epiphyseal dysplasia with bilateral patellae;   rMED
 primary_id: MESH:C535504;   OMIM:226900
 alt_id: DOID:9004230;   RDO:0000646
 xref: GARD:9793;   ORDO:93307
For additional species annotation, visit the Alliance of Genome Resources.


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multiple epiphyseal dysplasia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:13208864

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                multiple epiphyseal dysplasia 10
                  multiple epiphyseal dysplasia 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.